唐氏综合征血清学筛查联合无创基因检测技术的临床研究

目的探讨唐氏综合征血清学筛查联合无创基因检测技术在增加唐氏综合征的检出率,降低假阳性率的意义。方法应用时间分辨荧光免疫分析技术,对11 748例孕妇进行血清标志物（PAPP-A/freeβ-h CG或者AFP/freeβ-h CG/u E3）联合筛查,使用Multical软件筛查高风险对象,血清学高风险孕妇抽取静脉血10ml,提取游离DNA,采用新一代高通量测序技术,结合生物信息分析,得出胎儿唐氏综合征的风险率。结果共筛查出高风险孕妇1024例,其中21三体高风险891例,18三体高风险133例,无创基因检测21三体高风险13例,18三体高风险4例,16例高风险孕妇经介入性产前诊断细胞培养均确诊为染色体异常,1例高风险孕妇染色体核型正常。结论无创基因检测在临床工作中可以改善血清学筛查结局,可以在临床工作中建立一套快速无创性产前诊断的有效模式。

Clinical study on maternal serum screening combined with noninvasive DNA sequencing of fetal chromosomal aneuploidy

Objective：To explore the significance of maternal serum screening combined with noninvasive DNA sequencing of fetal chromosomal aneuploidy,which increase the detection and decrease the false positive rate of Down syndrome. Methods：The technology of time-distinguished fluorescence immunoassay was used to detect the serum AFP,freeβ-HCG and u E3 levels of 11 748 pregnant women. The high risk pregnant women were calculated with Multical software. 10 ml venous blood was drawn from these high risk pregnant women,plasma DNA was extracted. By using high-throughput sequencing technique,we get high risk of noninvasive prenatal diagnosis. Results：1024 high risk pregnant women underwent serum screening,891 cases of trisomy 21,133 cases of trisomy 18. While noninvasive prenatal diagnosis,13 cases of trisomy 21,4 cases of trisomy 18. 17 women underwent amniocentesis or cordocentesis to get chromosome karyotype for definite diagnosis. 16 cases were consistent with noninvasive prenatal diagnosis,only one case was normal karyotype. Conclusion：Noninvasive prenatal diagnosis has higher efficiency than maternal serum screening,which has important clinical significance to prevent congenital defects in infants.